Canonical Allele Identifier: CA349544093
Community Standard Title: NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559740T>A , CM000664.2:g.178559740T>A GRCh38
NC_000002.11:g.179424467T>A , CM000664.1:g.179424467T>A GRCh37
NC_000002.10:g.179132713T>A NCBI36
NG_011618.3:g.276063A>T , LRG_391:g.276063A>T
NG_051363.1:g.41914T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86392A>T (TTN) MANE Select NP_001254479.2:p.Arg28798Ter
ENST00000589042.5:c.86392A>T (TTN) MANE Select ENSP00000467141.1:p.Arg28798Ter
NM_001256850.1:c.81469A>T (TTN) NP_001243779.1:p.Arg27157Ter
NM_003319.4:c.59197A>T (TTN) NP_003310.4:p.Arg19733Ter
NM_133378.4:c.78688A>T (TTN) NP_596869.4:p.Arg26230Ter
NM_133432.3:c.59572A>T (TTN) NP_597676.3:p.Arg19858Ter
NM_133437.4:c.59773A>T (TTN) NP_597681.4:p.Arg19925Ter
NR_038271.1:n.447-11560T>A (TTN-AS1)
NR_038272.1:n.2043+17379T>A (TTN-AS1)
ENST00000342175.10:c.59773A>T (TTN) ENSP00000340554.6:p.Arg19925Ter
ENST00000342175.11:c.59773A>T (TTN) ENSP00000340554.6:p.Arg19925Ter
ENST00000342992.10:c.78688A>T (TTN) ENSP00000343764.6:p.Arg26230Ter
ENST00000342992.11:c.78688A>T (TTN) ENSP00000343764.6:p.Arg26230Ter
ENST00000359218.10:c.59572A>T (TTN) ENSP00000352154.5:p.Arg19858Ter
ENST00000359218.9:c.59572A>T (TTN) ENSP00000352154.5:p.Arg19858Ter
ENST00000460472.6:c.59197A>T (TTN) ENSP00000434586.1:p.Arg19733Ter
ENST00000591111.5:c.81469A>T (TTN) ENSP00000465570.1:p.Arg27157Ter
ENST00000615779.4:c.81469A>T (TTN) ENSP00000483597.1:p.Arg27157Ter
XM_011511729.1:c.85489A>T (TTN) XP_011510031.1:p.Arg28497Ter
XM_011511730.1:c.59383A>T (TTN) XP_011510032.1:p.Arg19795Ter
XM_011511731.1:c.59242A>T (TTN) XP_011510033.1:p.Arg19748Ter
XM_017004819.1:c.85285A>T (TTN) XP_016860308.1:p.Arg28429Ter
XM_017004820.1:c.80683A>T (TTN) XP_016860309.1:p.Arg26895Ter
XM_017004821.1:c.80680A>T (TTN) XP_016860310.1:p.Arg26894Ter
XM_017004822.1:c.77722A>T (TTN) XP_016860311.1:p.Arg25908Ter
XM_017004823.1:c.59338A>T (TTN) XP_016860312.1:p.Arg19780Ter
XM_024453094.1:c.80833A>T (TTN) XP_024308862.1:p.Arg26945Ter
XM_024453095.1:c.80830A>T (TTN) XP_024308863.1:p.Arg26944Ter
XM_024453096.1:c.80263A>T (TTN) XP_024308864.1:p.Arg26755Ter
XM_024453097.1:c.77605A>T (TTN) XP_024308865.1:p.Arg25869Ter
XM_024453098.1:c.77524A>T (TTN) XP_024308866.1:p.Arg25842Ter
XM_024453099.1:c.59287A>T (TTN) XP_024308867.1:p.Arg19763Ter
XM_024453100.1:c.49141A>T (TTN) XP_024308868.1:p.Arg16381Ter